Ectodermal dysplasia with immunodeficiency caused by a branch-point mutation in IKBKG/NEMO

SE Jørgensen, P Bøttger, E Kofod-Olsen… - Journal of Allergy and …, 2016 - jacionline.org
To the Editor: A number of novel primary immunodeficiencies have been identified during
recent years through the investigation of infectious diseases at the genetic and immunologic
levels. Anhidrotic ectodermal dysplasia with immunodeficiency (EDA-ID) is a condition
consisting of both a somatic phenotype with ectodermal dysplasia and a combined
immunodeficiency predisposing to infections with bacteria, mycobacteria, fungi, and viruses.
This immunodeficiency has been demonstrated to be caused by mutations in the …